Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment
Introduction and Purpose: Congenital adrenal hyperplasia represents a group of genetic disorders characterized by improper adrenal steroidogenesis, resulting in deficiency or absence of cortisol and/or aldosterone, and varying degrees of disturbances in sexual development. The aim of this study is t...
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Nicolaus Copernicus University in Toruń
2024-11-01
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| Series: | Quality in Sport |
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| Online Access: | https://apcz.umk.pl/QS/article/view/56222 |
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| author | Oskar Targoński Marta Targońska Adrianna Madej Adrian Suława Julia Furgalska Sebastian Fedorowicz Aneta Basiak Aleksander Ptasiński Rafał Niekurzak Agnieszka Buczek |
| author_facet | Oskar Targoński Marta Targońska Adrianna Madej Adrian Suława Julia Furgalska Sebastian Fedorowicz Aneta Basiak Aleksander Ptasiński Rafał Niekurzak Agnieszka Buczek |
| author_sort | Oskar Targoński |
| collection | DOAJ |
| description | Introduction and Purpose: Congenital adrenal hyperplasia represents a group of genetic disorders characterized by improper adrenal steroidogenesis, resulting in deficiency or absence of cortisol and/or aldosterone, and varying degrees of disturbances in sexual development. The aim of this study is to raise awareness about the disease, enabling early diagnosis and contributing to reducing neonatal mortality, as the first clinical manifestation of CAH can be the life-threatening salt-wasting syndrome.
State of Knowledge: Congenital adrenal hyperplasia (CAH), also known as congenital adrenal hyperplasia, encompasses a group of inherited disorders affecting the adrenal glands located above the kidneys. Adrenal glands produce various hormones, including cortisol, aldosterone, and androgens. CAH involves deficiencies in the enzymes necessary for the production of these hormones, leading to hormonal disturbances.
Summary: Congenital adrenal hyperplasia (CAH), also referred to as congenital adrenal hyperplasia (CAH), describes a group of genetic diseases causing defects in adrenal hormone synthesis. CAH results in deficiency or absence of cortisol and/or aldosterone. The most common causes are mutations in the CYP21 gene (21-hydroxylase deficiency), CYP11B2 gene (11β-hydroxylase deficiency), and HSD3B2 gene (3β-hydroxysteroid dehydrogenase deficiency). Enzymatic deficiencies lead to compensatory increases in CRH and ACTH secretion, causing adrenal hyperplasia and excessive androgen synthesis.
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| format | Article |
| id | doaj-art-dd9f3d85cba94f7e99a3a2ec6ac7214b |
| institution | OA Journals |
| issn | 2450-3118 |
| language | English |
| publishDate | 2024-11-01 |
| publisher | Nicolaus Copernicus University in Toruń |
| record_format | Article |
| series | Quality in Sport |
| spelling | doaj-art-dd9f3d85cba94f7e99a3a2ec6ac7214b2025-08-20T02:23:06ZengNicolaus Copernicus University in ToruńQuality in Sport2450-31182024-11-013410.12775/QS.2024.34.56222Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, TreatmentOskar Targoński0Marta Targońska1Adrianna Madej2Adrian Suława3Julia Furgalska4Sebastian Fedorowicz5Aneta Basiak6Aleksander Ptasiński7Rafał Niekurzak8Agnieszka Buczek9Public University Hospital No. 1 in Lublin Stanisława Staszica 16, 20-400 Lublin, PolandPublic University Hospital No. 1 in Lublin Stanisława Staszica 16, 20-400 Lublin, PolandLudwik Rydygier Memorial Specialized Hospital Osiedle Złotej Jesieni 1, 31-826 Kraków, PolandLower Silesian Oncology Center, Ludwik Hirszfeld Square 12, 53-413 Wrocław, PolandLower Silesian Oncology Center Ludwik Hirszfeld Square 12, 53-413 Wrocław, PolandLower Silesian Specialist Hospital - Emergency Medicine Centre ul. Gen. Augusta Emila Fieldorfa 2, 54-049 Wrocław, PolandBeskid Centre of Oncology - John Paul II City Hospital ul. Wyzwolenia 18, 43-300 Bielsko-Biała, Poland Public University Hospital No. 1 in Lublin Stanisława Staszica 16, 20-400 Lublin, PolandPublic University Hospital No. 1 in Lublin Stanisława Staszica 16, 20-400 Lublin, PolandPublic University Hospital No. 1 in Lublin Stanisława Staszica 16, 20-400 Lublin, PolandIntroduction and Purpose: Congenital adrenal hyperplasia represents a group of genetic disorders characterized by improper adrenal steroidogenesis, resulting in deficiency or absence of cortisol and/or aldosterone, and varying degrees of disturbances in sexual development. The aim of this study is to raise awareness about the disease, enabling early diagnosis and contributing to reducing neonatal mortality, as the first clinical manifestation of CAH can be the life-threatening salt-wasting syndrome. State of Knowledge: Congenital adrenal hyperplasia (CAH), also known as congenital adrenal hyperplasia, encompasses a group of inherited disorders affecting the adrenal glands located above the kidneys. Adrenal glands produce various hormones, including cortisol, aldosterone, and androgens. CAH involves deficiencies in the enzymes necessary for the production of these hormones, leading to hormonal disturbances. Summary: Congenital adrenal hyperplasia (CAH), also referred to as congenital adrenal hyperplasia (CAH), describes a group of genetic diseases causing defects in adrenal hormone synthesis. CAH results in deficiency or absence of cortisol and/or aldosterone. The most common causes are mutations in the CYP21 gene (21-hydroxylase deficiency), CYP11B2 gene (11β-hydroxylase deficiency), and HSD3B2 gene (3β-hydroxysteroid dehydrogenase deficiency). Enzymatic deficiencies lead to compensatory increases in CRH and ACTH secretion, causing adrenal hyperplasia and excessive androgen synthesis. https://apcz.umk.pl/QS/article/view/56222CAHcongenital adrenal hyperplasiaCYP enzymesCYP genesAdrenal HyperplasiaEnzymes |
| spellingShingle | Oskar Targoński Marta Targońska Adrianna Madej Adrian Suława Julia Furgalska Sebastian Fedorowicz Aneta Basiak Aleksander Ptasiński Rafał Niekurzak Agnieszka Buczek Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment Quality in Sport CAH congenital adrenal hyperplasia CYP enzymes CYP genes Adrenal Hyperplasia Enzymes |
| title | Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment |
| title_full | Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment |
| title_fullStr | Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment |
| title_full_unstemmed | Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment |
| title_short | Congenital Adrenal Hyperplasia (CAH) - Causes, Diagnosis, Symptoms, Treatment |
| title_sort | congenital adrenal hyperplasia cah causes diagnosis symptoms treatment |
| topic | CAH congenital adrenal hyperplasia CYP enzymes CYP genes Adrenal Hyperplasia Enzymes |
| url | https://apcz.umk.pl/QS/article/view/56222 |
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